Features include sometimes findings: Nyctalopia, Ventricular septal defect, Oculomotor apraxia, and Hydrocephalus and others; and rarely findings: Impaired glucose tolerance. 30 total HPO annotations.

IFT172 encodes intraflagellar transport 172 (1,749 aa). Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway Highest expression in Testis (57.3 TPM) and Pituitary (51.2 TPM).

Short-rib thoracic dysplasia 10 with or without polydactyly is associated with mutations in the IFT172 gene on chromosome 2.

IFT172 is classified as a druggable target with score 0.0.

Genetic testing for IFT172 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for short-rib thoracic dysplasia 10 with or without polydactyly has been reported in the published literature.

No clinical trials have been registered for short-rib thoracic dysplasia 10 with or without polydactyly.

200 publications have been identified in PubMed for short-rib thoracic dysplasia 10 with or without polydactyly. Kisho has analyzed 94 by research type. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (24%), and Epidemiology / Natural History (17%).